Cardiac defects of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: a retrospective cohort study.

Background: Defective connective tissue structure may cause individuals with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorders (HSD) to develop cardiac defects. Methods: We conducted a retrospective chart review of adult patients treated in the EDS Clinic from November 1, 2019, to June 20, 2022 to identify those with cardiac defects. Echocardiogram data were collected using a data collection service. All EDS Clinic patients were evaluated by a single physician and diagnosed according to the 2017 EDS diagnostic criteria. Patient demographic, family and cardiac history were extracted from self-reported responses from a REDCap clinical intake questionnaire. Patients with at least 1 available echocardiogram (ECHO) were selected for the study (n = 568). Results: The prevalence of aortic root dilation in patients with hEDS was 2.7% and for HSD was 0.6%, with larger measurements for males than females and with age. Based on self-reported cardiac history that was verified from the medical record, patients with hEDS with bradycardia (p = 0.034) or brain aneurysm (p = 0.015) had a significantly larger average adult aortic root z-score. In contrast, patients with HSD that self-reported dysautonomia (p = 0.019) had a significantly larger average aortic root z-score. The prevalence of diagnosed mitral valve prolapse in patients with hEDS was 3.5% and HSD was 1.8%. Variants of uncertain significance were identified in 16 of 84 patients that received genetic testing based on family history. Conclusions: These data reveal a low prevalence of cardiac defects in a large cohort of well-characterized hEDS and HSD patients. Differences in cardiovascular issues were not observed between patients with hEDS vs. HSD; and our findings suggest that cardiac defects in patients with hEDS or HSD are similar to the general population.

Mutagen sensitivity and risk of second cancer in younger adults with head and neck squamous cell cancer: 15-year results.

PURPOSE: To evaluate the mutagen sensitivity phenotype on the risk of second primary cancer (SPC) in patients with head and neck squamous cell carcinoma (HNSCC), and to estimate the long-term rate of SPC and the outcome with SPC. METHODS: A survey was made regarding SPC among 124 younger (≤ 50 years) adults with HNSCC who were enrolled in a pretreatment mutagen sensitivity investigation during 1996-2006. Mutagen sensitivity was assessed by exposing lymphocytes to bleomycin in vitro and quantifying the bleomycin-induced chromatid breaks per cell (b/c). Patients were classified as hypersensitive (> 1 b/c) or not hypersensitive (≤ 1 b/c). RESULTS: Mean follow-up time for all patients was 68 months (range: 5-288 months), and the 15-year cancer-specific survival was 15%. Twenty patients (16%) developed a SPC (15-year estimated rate: 41%), and half of them was hypersensitive. The crude rate of SPC for hypersensitive (n = 65) or not hypersensitive (n = 59) patients were 15 and 17%, respectively (p = 0.4272). The 15-year estimated rate of SPC for hypersensitive and not hypersensitive patients was 36 and 48%, respectively (p = 0.3743). Gender, UICC stages, anatomical sites of index cancer did not prove to be a significant risk factor for SPC. Forty-five percent of SPC developed after the 10-year follow-up. The 3­year cancer-specific survival was 23% with SPC. CONCLUSION: According to our findings, mutagen hypersensitivity was not associated with an increased SPC risk in HNSCC patients. Patients are at a lifelong risk of developing a SPC. Survival with SPC is very poor.

The effect of six different C18 fatty acids on body fat and energy metabolism in mice.

We studied the effects of five high-fat semi-purified diets varying at a 4% (w/w) level in either stearic, oleic, linoleic, alpha-linolenic, or gamma-linolenic acid on body fat and energy metabolism in BALB/c mice. A diet containing caprylic, capric, lauric, and myristic acid was used as a reference diet and a diet with 4% conjugated linoleic acid (CLA) was used as a positive control as it is known to effectively lower body fat in mice. The diets were fed for 35 d. Body fat was significantly lower in the CLA group than in the other groups but was not significantly different among the non-CLA groups. Among the non-CLA groups, the linoleic acid group tended to have the highest and the alpha-linolenic acid group the lowest proportion of body fat. In energy-balance studies, the percentage of energy intake that was stored in the body was significantly lower in the CLA group compared with the other dietary groups. The percentage of energy intake eliminated in excreta was highest in the stearic acid group followed by the gamma-linolenic acid group. These results were reflected in apparent fat digestibility, which was lowest in the stearic acid group. The percentage of energy intake expended as heat was highest in the CLA-fed mice. The results of the present study suggest that body fat and energy accretion in mice fed diets containing different C18 fatty acids is by far the lowest with CLA and that linoleic acid produced the highest fat intake and energy accretion.

Dietary conjugated linoleic acids as free fatty acids and triacylglycerols similarly affect body composition and energy balance in mice.

The objective of this study was to compare the effects of conjugated linoleic acid (CLA) as triacylglycerols (TAG) or free fatty acids (FFA) on body composition and energy balance in mice. We fed four groups of 5-wk-old Balb-C mice (n = 9) semipurified diets containing either CLA (0.5 g CLA/100 g of diet) or high oleic sunflower oil (HOSF) in the form of FFA or TAG for 42 d. Body composition was determined and the energy in the carcasses, excreta and food was measured in a bomb calorimeter. The amount of body fat was 4.72 +/- 0.95 g (17.9 +/- 2.8%) in the HOSF-FFA group, 2.36 +/- 0.29 g (9.4 +/- 1.0%) in the CLA-FFA mice (mean +/- SD, P < 0.05), 4.76 +/- 0.74 g (18.2 +/- 2.2%) in the HOSF-TAG group and 2.32 +/- 0.38 g (9.3 +/- 1.1%) in the CLA-TAG mice (P < 0.05). The percentage of energy intake that was stored in the body was 3.5 +/- 1.2% in the HOSF-FFA group, 0.6 +/- 0.3% in the CLA-FFA group (P < 0.05), 3.5 +/- 1.1% in the HOSF-TAG group and 0.5 +/- 0.4 in the CLA-TAG mice (P < 0.05). Conversely, the percentage of energy intake that was expended as heat was 89.4 +/- 1.2% in the HOSF-FFA group, 92.4 +/- 0.8% in the CLA-FFA mice (P < 0.05), 89.47 +/- 1.23% in the HOSF-TAG group and 92.2 +/- 0.4% in the CLA-TAG group (P < 0.05). Thus, CLA in the form of FFA or TAG had similar effects on body composition and energy balance.

[The paleopathologic work of György Huszár and Dénes Schranz]. / Huszár György és Schranz Dénes fogászati paleopatológiai munkássága.

Dr. György Huszár and Dr. Dénes Schranz, passed away last year. Both of them also worked also in a less known branch of dentistry: in dental paleopathology (paleostomatology). Their investigations in the field, the common results, and bibliography connected to this topic are introduced in the article.

[Prosthetic rehabilitation of cleft palate patients with fixed partial dentures]. / Szájpadhasadékos betegek protetikai rehabilitációja rögzített fogmúvekkel (Esetismertetés).

Treatment of cleft palate patients demands a well coordinated work of medical and dental specialists. In spite of the surgical and orthodontic therapy a prosthetic rehabilitation is often necessary because of missing teeth, maxillary hypoplasia, malocclusion and palatal defects. The prosthetic phase begins immediately after the orthodontic treatment. In this way the fixed partial denture replaces the retention appliance and stabilizes the achieved status. The aim of the prosthetic treatment is to improve the function of the masticatory apparatus, speech and aesthetic appearance of the patient. An important task of the prostheses is to support and lift up the upper lip and the base of the nose. There are several factors, which make the treatment difficult, like underdeveloped and collapsed maxillary arch, retrognath position of the maxilla, missing alveolar ridge, defects of the bone and mucosa, scars and stiffness of the upper lip. The maintenance of the oral hygiene with the fixed restorations is often difficult because of the stiffness of the upper lip, therefore the design of the pontic is very important especially in the cases, when the missing processus alveolaris has to be replaced in order to improve the harmony of the face.

The decrease in body fat in mice fed conjugated linoleic acid is due to increases in energy expenditure and energy loss in the excreta.

We carried out energy balance studies in four groups of young, growing, 5-wk-old Balb-C mice (n = 12/group) that were either food restricted or nonrestricted and fed high fat diets (38 energy%) with or without 0.93 g/100 g conjugated linoleic acid (CLA) for 39 d. The energy in carcasses, excreta and food was measured in a bomb calorimeter. CLA lowered the percentage of the energy intake that was stored in the body from 1.9 +/- 0.8 to -2.3 +/- 0.7% (mean +/- SD, P < 0.05) in the nonrestricted mice and from 1.4 +/- 1.3 to -2.9 +/- 0.7% (P < 0.05) in the restricted mice. Thus, the CLA-treated mice had a net loss of body energy. The percentage of the energy intake eliminated in the excreta increased from 7.6 +/- 0.9% in controls to 8.7 +/- 1.0% (P < 0.05) in the CLA-treated mice that were nonrestricted and from 7.3 +/- 0.8 to 8.4 +/- 0.6 (P < 0.05) in the restricted mice. The amount of energy ingested minus the amount retained in carcasses and excreta equals the energy expenditure. The percentage of the energy intake that was expended as heat increased from 90.5 +/- 1.2 in controls to 93.6 +/- 1.5% (P < 0.05) in the CLA-treated nonrestricted mice and from 91.3 +/- 1.5 to 94.5 +/- 1.0% (P < 0.05) in the restricted mice. The lower energy storage in the CLA-fed mice was accounted for by an increase in the energy expenditure (74%) and by an increase in energy lost in the excreta (26%). Feeding CLA also increased liver weight, which may warrant further studies on the safety of CLA.

Specificity and reversibility of the training effects on the concentration of Na+,K+-Atpase in foal skeletal muscle.

The purpose of the present study was to determine whether training and detraining affect the Na+,K+-ATPase concentration in horse skeletal muscles, and whether these effects are specific for the muscles involved in the training programme. Twenty-four Dutch Warmblood foals age 7 days were assigned randomly to 3 groups: Box (box-rest without training), Training (box-rest with training: short-sprint) and Pasture (pasture without training). Exercise regimens were carried out for 5 months and were followed by 6 months of detraining. Five of the foals in each group were subjected to euthanasia at age 5 months and the remaining foals at 11 months. Muscle samples were collected from the deep part of the gluteus medius, semitendinosus and masseter muscles. The Na+,K+-ATPase concentration was quantified by [3H]ouabain binding. In the Training group, the concentration of Na+,K+-ATPase in gluteus medius and semitendinosus muscle, but not in masseter muscle, showed a relative increase of 20% (P<0.05) as compared to Box foals. After detraining for the subsequent 6 months, the concentration of Na+,K+-ATPase in semitendinosus muscle remained the same, while that in gluteus medius muscle was reduced by 10%. It is concluded that: 1) short-sprint training for 5 months induced an increase of the Na+,K+-ATPase concentration in gluteus medius and semitendinosus muscles of the foal. Interestingly, this effect persisted during the 6 months of the detraining period. Whether the higher Na+,K+-ATPase concentration due to training of young foals leads to a better athletic performance when they become mature still needs to be established; 2) the factors that initiate an increase in Na+,K+-ATPase concentration following training are likely to be located in the muscle itself and 3) the training effect may last for several months after returning to normal activity, especially in muscles containing a high percentage of fast-twitch fibres.

[Caries, gingivitis and dental abnormalities in patients with cleft lip and palate]. / Az ajak- és szájpadhasadékos betegek cariológiai, parodontológiai és orthodontiai vizsgálata.

Oral health was studied in 31 children aged 10-12 years with cleft lip and palate and compared to 31 noncleft controls matched for sex and age. We found a difference in the prevalence and activity of caries with increase in cleft lip and palate patients. The unilateral crossbite and the congenitally missing teeth were more common in cleft palate children and the supernumerary teeth were fewer. Almost all children used fluoride tablets.

Prolonged food restriction and mild exercise in Shetland ponies: effects on weight gain, thyroid hormone concentrations and muscle Na(+),K(+)-ATPase.

We determined the effects of food supply and low-intensity training on growth, serum thyroid hormone levels and the Na(+),K(+)-pump concentration in equine skeletal muscle. Twenty-two Shetland ponies were subjected to two different feeding regimes for 2(1/2) years (11 ponies per group): food restriction (body condition score kept at 2) or ad libitum fed (body condition score kept at 8). Five ponies in each group underwent low-intensity training. Gluteus medius muscle and serum samples were obtained in April 1998. Subsequently, all ponies were fed ad libitum and the training programme was stopped. Muscle biopsies and serum samples were collected again in November 1998. Food restriction was associated with a 30-50% reduction of body weight gain. While the total thyroxine (T(4)) level was increased, the free T(4) remained at the control level. The serum total tri-iodothyronine (T(3)) and free T(3) were reduced by 30% and 49% respectively. After 6 months of refeeding there were no differences in any of the hormone levels between the ad libitum fed and the food-restricted groups. Food restriction produced a minor, but not significant, decrease in the Na(+),K(+)-pump concentration in the gluteus medius muscle of the Shetland ponies. Low-intensity training reduced weight gain of the ad libitum fed group by 25%, but had no detectable effect on the concentration of the Na(+), K(+)-pumps. We conclude that prolonged food restriction in Shetland ponies results in a weight gain reduction of 30-50%, and is associated with similar decreases in serum total and free T(3). The reduction in serum T(3) only slightly influenced the Na(+), K(+)-ATPase concentration in skeletal muscle, indicating that muscle tissue of different species may respond differently to changes in circulating thyroid hormones.

High calcium intake lowers apparent digestibility of energy in veal calves.

Veal calves aged 8 weeks were fed iso-energetic amounts of milk replacers with either a low (7.1 g of calcium/kg of air-dry diet) or a high concentration of calcium (11.6 g of calcium/kg of air-dry diet) for a period of 10 weeks. The extra calcium was added in the form of calcium formiate. Final body weight of the two dietary groups was similar. Faeces were collected during the final week of the trial. The high calcium diet raised faecal dry matter output by 87% and faecal energy by 70%. The extra output of faecal dry matter was composed of 36% and 37% of crude fat and ash, respectively. The extra faecal energy output was for 75% in the form of crude fat. The high versus low calcium intake not only depressed apparent digestibility of total lipids but also that of crude protein, carbohydrates and ash. It is concluded that a high calcium intake by veal calves reduced energy availability without affecting body weight gain.

Age variance of left ventricular diameters in dogs with cardiac disease.

Ventricular size increases during growth, but often due to cardiac disease. This study aims to describe left ventricular dimension interrelations using a representation that is applicable to patients with cardiac disease, and subsequently to statistically study possible age and gender influences in a large population. In retrospect we analyzed echocardiographically obtained diameters of the left ventricle in 442 dogs of various breeds with congenital or acquired heart disease. Also, we compared our findings with published data on humans and other animals. Multivariate regression analysis was applied to assess possible influences of age and gender. A high correlation was found for end-systolic diameter (ESD) versus end-diastolic diameter (EDD): ESD (cm) = -1.01 cm + 0.93 x EDD (cm) with r = 0.94, p < .00001. Next, these patients were categorized into three age groups (divisions at 3 and 7 years). We detected a slight age dependent effect: the regression coefficients for the younger group differed from the two older groups. No significant gender-related influence was detected. The observation of a high correlation for the ESD versus EDD relationship could be confirmed by reanalysis of published data on normal individuals and human patients. The newly described relationship between ESD and EDD applies in particular to cardiac patients. This is a relevant finding, because clinically important indices of ventricular performance generally depend on ESD, EDD or both. Thus, ESD versus EDD offers a convenient framework for studies on cardiac volume regulation and performance in the cardiopathological spectrum, while permitting incorporation of modulating effects related to age.

[A single central maxillary incisor in the midline as a mild form of holoprosencephaly]. / A középvonalban megjelenö egyetlen felsö középsö metszö mint a holoprosencephalia enyhe formája.

Besides the hypotelorism the mildest form of holoprosencephaly is the solitary incisor. In the case described, the girl had only high palate and torus palatinus, but no other alteration in the midline. One of her brothers had cleft lip and palate, which indicates genetical determination. The girl has been orthodontically treated.

[Mortality model of middle-aged males in Budapest]. / A kozepkoru Budapesti ferfiak halalozasi modellje.

PIP: Factors affecting mortality among middle-aged men in Budapest, Hungary, are analyzed using official data from a survey conducted in the mid-1980s. A strong link between low socioeconomic status and higher risk of mortality is noted. (SUMMARY IN ENG AND RUS)^ieng

[Bone age of children in 2 communities in Hungary with different fluoride levels in the drinking water]. / Die Knochenreife von Kindern in zwei Gemeinden in Ungarn mit unterschiedlichem Fluoridgehalt im Trinkwasser.

The adverse effects of ingested fluoride were investigated. The bone-age of children consuming drinking water containing optimum (about 1 mg/l) fluoride concentration with regard to caries prophylaxis was compared with the bone-age of those consuming drinking water containing low (0.14-0.26 mg/l) fluoride concentration. The examinations were conducted on 7-14-year old Hungarian children. The bone-age was determined by the TW2 method. No significant difference was found between the bone-age of the children belonging to the group consuming water with optimum fluoride concentration and those in the other group consuming water with low fluoride concentration.